Hit with a rare disease, Onno Faber formed a startup to hack it — and he’s taking on conventional medicine in the process.

Onno Faber was 33 and living in Berlin, launching a photo-sharing smartphone app, when he awoke one morning to a terrible sound in his left ear. Every noise around him, even a toilet flush, sounded like breaking glass. A series of medical tests produced no answers, until the day Onno walked into the doctor’s office and saw a bright circle, a tumor, in the image of his brain on the computer screen. And Onno thought, “Fuck!”

Onno had neurofibromatosis type 2, or NF2, a rare disorder in which tumors grow in the nerve cells that enable hearing, balance, and movement. Doctors did not expect Onno’s case to kill him, but in time Onno would almost surely lose his hearing and perhaps his eyesight and mobility as well.

In the three years since that shock, Onno has transformed his initial grief into determination to do things in a groundbreaking way — by confronting biological fate with technological invention. His genre-bending quest brings cutting-edge gene sequencing together with artificial intelligence and the collaborative spirit of Silicon Valley to solve a medical puzzle. And though the gene mutation that causes NF2, which is sometimes hereditary, struck Onno at random, it turns out that he is just the right person, in just the right place, with just the right friends to do this.

“My mission is to make it exciting to work on rare diseases. And genomics is helping with that,” Onno says. “With what’s currently possible you can kind of start working on it from your garage.”

It all started with an informal conversation with his friend Mo Rahman in San Francisco. (Onno, a Netherlands native, had moved to the Bay Area in early 2015 to strengthen his tech startup.) It so happens that Mo is a biochemist and informatics expert who develops genomic-analysis software for a living. Mo is also a shy guy who plays electric guitar and proclaims on his blog that he’s “a firm believer that discordant songs are more worthwhile than upbeat jingles.” When Onno got sick, he started asking Mo questions. “I told him, well, cancer is like a genetic disease,” Mo recalls. “I started explaining to him what tumors are and how spelling errors basically cause the cell to go crazy and multiply.”

The standard treatment options available to Onno sounded bleak. NF2, like many rare diseases, has been largely neglected by pharmaceutical companies because its market of patients is small. It afflicts about one in 25,000 people worldwide. To treat it, doctors typically consider brain surgery or radiation. Or Avastin, a drug repurposed from other diseases; it can temporarily shrink some NF2 tumors but comes with terrible side effects. “So the only treatment they can give me is a drug I don’t want to take,” Onno says.

Onno asked Mo how he might take matters into his own hands. Coincidentally, Mo and his business partner had just bought a gene-sequencing machine to experiment with. “We were having dinner and drinks one day,” says Mo, “and at some point Onno was like, ‘Let’s do this sequencing thing,’ and I was like, ‘Dude, the sequencing machine just came in, it’s at my apartment!’” They went that night to look at it, and their determination to do their own medical research project was sealed.

The room for discovery about NF2 remains vast. Every patient with the disease has a mutated gene on chromosome 22 that essentially cuts the brakes on cells proliferating out of control. But other gene mutations could also play a role. Identifying those mutations could explain why some patients get the first signs of NF2 as young as infancy, some have tumors so aggressive that they die in their thirties, and others, like Onno, just lose one function after another as the tumors grow.

The tile that Onno’s mother gave him before his cancer surgery.

“We need to find the equivalent of insulin for these tumors — the kind of treatment that doesn’t hurt you but only keeps the disease under control,” says Salvatore La Rosa, vice president of research and development at the Children’s Tumor Foundation, which aims to end all types of neurofibromatosis. La Rosa praises Onno’s approach for “bringing this new view and [exploring] these potentially upside-down connections.”

In early 2015, Onno’s doctors found two more tumors, one on his right hearing nerve and one on his spine. The quest became more urgent. So Mo and Onno ultimately decided to have Onno’s cancer sequenced at the Broad Institute of MIT and Harvard, instead of on Mo’s more modest machine, to get highly detailed data.

As Onno went into surgery that fall to remove the first tumor, along with his left hearing and vestibular nerves, his mother gave him a gift: a painted tile bearing the words: “These problems could cause a lot of solutions.”

“She knows me,” Onno says, laughing. “I think that sums me up.”

The surgery rendered Onno permanently deaf in his left ear. He relearned how to walk (and ski down black-diamond slopes) with a new sense of equilibrium. When the genome sequence of his tumor came back from the Broad Institute, he let Mo dig into the data. And Mo found something: a potential clue, a mutation on chromosome 7 in a gene involved in the signaling that governs cell growth. That signaling also interacts with the faulty protein behind NF2, and — tantalizingly — there is a drug for it. Yet it’s a drug that doctors will not prescribe Onno until further research establishes that it works for NF2.

“That was the moment where I felt like, ‘all right, it seems that we can actually do something here,’” Onno recalls.

Onno is an inventor by nature. As a child, he patented an improved kind of nail clipper. As a young man, he launched a series of small startups, including a design-thinking studio. He is also humble and kind; he looks right into you, attentive and open, with his light green eyes. And that matters, because one of the keys to his quest is friendship — with Mo, with other technologists who want to help with his mission, with the medical researchers who are advising him, and with the many NF2 patients he has met from around the world.

With Mo’s genetic discovery in hand, Onno went after it the way he knows how: the serial startup founder founded a startup. It’s called the NF2 Project, and it aims to cure NF2 by pooling patient data and using powerful computer analytics to identify previously unrecognized genes that fuel the disease. From there it could be possible to find new treatments.

The business model for this startup is not yet clear, but Onno is confident one will emerge along with something truly better for NF2 patients. What’s radical about Onno’s approach is that patients themselves — not drug companies — will be in charge. His new company is urging NF2 patients to have their genomes sequenced and upload the data. Then Mo and colleagues will train their genome-analysis tools on the data and hunt for relevant mutations like programmers searching for bugs in code.

The patients who contribute data will have to be comfortable with strangers combing their genetic code. Onno himself doesn’t mind much; his natural openness extends even to his genetic data. But he intends to develop clear privacy agreements so that other patients (and any research institutions that might participate) feel they are safe.

Only recently has this kind of grassroots-backed genetic research become possible. Onno’s high-resolution gene sequencing cost $15,000, but patients can get useful information from a less-thorough method that costs around $2,000 (and Onno aims to find financial aid for those who can’t afford it). The NF2 Project needs more patients’ data for comparison, to see whether the chromosome 7 mutation that Mo found in Onno’s tumor — or any mutations he might find in other patients — actually matters for NF2, or if it’s merely a coincidence.

It is also recent that we’ve had the data-crunching power to tackle such vast biological puzzles — data sets so large that only now are computers strong enough to analyze more than a few at a time. A single human genome can take up hundreds of gigabytes.

That power opens up the possibility of precision medicine, which tailors treatment to each patient’s particular genetic glitches rather than, say, lobbing a general prescription like Avastin at NF2 patients regardless of the specific bugs in their tumors’ code. It’s an approach that has shown promise for other kinds of cancers.

The opportunity to make a life-saving discovery has drawn researchers and drug developers from around the country to Onno’s cause. The NF2 Project’s first public event, a hackathon in June in San Francisco where participants analyzed Onno’s genetic code, drew 400 applications for 150 spots. In a weekend, hackers there turned up more genetic anomalies that could be clues to treating NF2. Another hackathon is set to happen in New York in November.

Onno believes his quest could propel the discovery of more personalized treatments for NF2 patients — and eventually for those who suffer from other rare diseases, as well. What he doesn’t know is whether he can outpace his own tumors. “There is definitely a clock ticking,” he says, marking the time until a growing tumor claims the rest of his hearing, his sight, or his ability to walk. But he cannot know for how long.